Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood

International management platform for children’s interstitial lung disease (chILD-EU)

(2017) Matthias Griese et al.   THORAX

MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro

(2016) Saket Ahuja et al.   AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Hermansky-Pudlak Syndrome

(2016) Souheil El-Chemaly et al.   CLINICS IN CHEST MEDICINE

ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl

(2016) Chiharu Ota et al.   PEDIATRIC PULMONOLOGY

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

(2015) Alice Hadchouel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype alone does not predict the clinical course ofSFTPCdeficiency in paediatric patients

(2015) Carolin Kröner et al.   EUROPEAN RESPIRATORY JOURNAL

European protocols for the diagnosis and initial treatment of interstitial lung disease in children

(2015) Andrew Bush et al.   THORAX

Hermansky-Pudlak syndrome type 4 with a novel mutation

(2014) Yuta Araki et al.   JOURNAL OF DERMATOLOGY

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

(2014) Ilaria Campo et al.   RESPIRATORY RESEARCH

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

(2013) B. Jessen et al.   BLOOD

Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

(2013) Matthew L Jones et al.   BMC Medical Genetics

Hermansky-Pudlak Syndrome: Health Care Throughout Life

(2013) S. L. Seward et al.   PEDIATRICS

Multi-ethnic reference values for spirometry for the 3–95-yr age range: the global lung function 2012 equations

(2012) Philip H. Quanjer et al.   EUROPEAN RESPIRATORY JOURNAL

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(2012) Bernadette Gochuico et al.   MOLECULAR MEDICINE

Novel mutation in Hermansky–Pudlak syndrome type 2 with mild immunological phenotype

(2012) Karin Kurnik et al.   PLATELETS

Clinical, Molecular, and Cellular Features of Non-Puerto Rican Hermansky–Pudlak Syndrome Patients of Hispanic Descent

(2011) Carmelo Carmona-Rivera et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Epithelial Stress and Apoptosis Underlie Hermansky-Pudlak Syndrome–associated Interstitial Pneumonia

(2010) Poornima Mahavadi et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Surfactant protein C gene (SFTPC) mutation-associated lung disease: High-resolution computed tomography (HRCT) findings and its relation to histological analysis

(2010) M. Mechri et al.   PEDIATRIC PULMONOLOGY

Usual Interstitial Pneumonia in an Adolescent With ABCA3 Mutations*

(2008) Lisa R. Young et al.   CHEST

Fleischner Society: Glossary of Terms for Thoracic Imaging

(2008) David M. Hansell et al.   RADIOLOGY